MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht
2027.0.0-ballot.1 - Germany

MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht - Downloaded Version 2027.0.0-ballot.1 See the Directory of published versions

Example Bundle: mii-exa-befund-bundle-befund-2-nipbl-clinical

Language: en

Bundle mii-exa-befund-bundle-befund-2-nipbl-clinical of type transaction

Entry 1 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-patient-2

Resource Patient:

Language: en

Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number (use: usual, ))

Deceased:false
Other Id:Gesetzliche Krankenversicherung/Z900211002 (use: official, )
Contact DetailAnna-Louisa-Karsch Str. 2 Berlin DE-BE 10178 DE

Request:

PUT Patient/mii-exa-molgen-patient-2

Entry 2 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-practitioner-lab

Resource Practitioner:

Language: en

active: true

name: Dr. Daniel Schmidt(Official)

Request:

PUT Practitioner/mii-exa-molgen-practitioner-lab

Entry 3 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-practitioner-physician

Resource Practitioner:

Language: en

active: true

name: Dr. Linda Rubens(Official)

Request:

PUT Practitioner/mii-exa-molgen-practitioner-physician

Entry 4 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-condition-nipbl-clinical

Resource Condition:

Language: en

Profile: MII PR Diagnose Condition

clinicalStatus: Active

verificationStatus: Confirmed

code: Angeborene Fehlbildungssyndrome, die vorwiegend mit Kleinwuchs einhergehen

subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number (use: usual, ))

onset: 2021-09-19 --> (ongoing)

recordedDate: 2022-03-06 07:36:00+0100

evidence

Request:

PUT Condition/mii-exa-molgen-condition-nipbl-clinical

Entry 5 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-phenotypic-feature-1

Resource Observation:

Language: en

status: Final

category: Exam

code: Long eyelashes

subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number (use: usual, ))

effective: 2022-03-13 09:30:00+0100

performer: Practitioner Dr. Linda Rubens(official)

value: Present

Request:

PUT Observation/mii-exa-molgen-phenotypic-feature-1

Entry 6 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-phenotypic-feature-2

Resource Observation:

Language: en

status: Final

category: Exam

code: Small for gestational age

subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number (use: usual, ))

effective: 2022-03-13 09:30:00+0100

performer: Practitioner Dr. Linda Rubens(official)

value: Present

Request:

PUT Observation/mii-exa-molgen-phenotypic-feature-2

Entry 7 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-phenotypic-feature-3

Resource Observation:

Language: en

status: Final

category: Exam

code: Microcephaly

subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number (use: usual, ))

effective: 2022-03-13 09:30:00+0100

performer: Practitioner Dr. Linda Rubens(official)

value: Present

Request:

PUT Observation/mii-exa-molgen-phenotypic-feature-3

Entry 8 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-phenotypic-feature-4

Resource Observation:

Language: en

status: Final

category: Exam

code: Muscular dystrophy

subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number (use: usual, ))

effective: 2022-03-13 09:30:00+0100

performer: Practitioner Dr. Linda Rubens(official)

value: Present

Request:

PUT Observation/mii-exa-molgen-phenotypic-feature-4

Entry 9 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-befundbericht-2

Resource DiagnosticReport:

Language: en

Profiles: MII PR MolGen Molekulargenetischer Befundbericht version: 2027.0.0-ballot.1, Genomic Report version: 3.0.0

Genetic analysis report (Genetics)

SubjectMelanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number (use: usual, ))
Performer Practitioner Dr. Daniel Schmidt(official)

Report Details

CodeValueFlagsRelevant Time
Diagnostic ImplicationFinal2022-03-16
Genetic variant assessmentPresentFinal2022-03-16

Nachweis der pathogenen Variante c.2207del p.(Pro736Glnfs*58) (heterozygot) im NIPBL-Gen.

Request:

PUT DiagnosticReport/mii-exa-molgen-befundbericht-2

Entry 10 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-anforderung-2

Resource ServiceRequest:

Language: en

Profile: MII PR MolGen Anforderung genetischer Test version: 2027.0.0-ballot.1

identifier: https://www.charite.de/fhir/auftragsnummern/gen_test_02

status: Active

intent: Order

category: Laboratory procedure (procedure)

code: No display for ServiceRequest.code (concept: Molecular genetic test (procedure))

subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number (use: usual, ))

authoredOn: 2022-03-16

requester: Practitioner Dr. Linda Rubens(official)

specimen: Specimen: identifier = https://www.charite.de/fhir/sid/bioproben#specimen_02; status = available; type = Blood specimen with edetic acid (specimen); receivedTime = 2021-11-24

Request:

PUT ServiceRequest/mii-exa-molgen-anforderung-2

Entry 11 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-chargeitem-ebm-21

Resource ChargeItem:

status: Billable

code: Postnatale Mutationssuche zum Nachweis oder Ausschluss einer krankheitsrelevanten oder krankheitsauslösenden konstitutionellen genomischen Mutation

subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number (use: usual, ))

quantity: 72

Request:

PUT ChargeItem/mii-exa-molgen-chargeitem-ebm-21

Entry 12 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-chargeitem-ebm-22

Resource ChargeItem:

status: Billable

code: Gezielter Nachweis oder Ausschluss von krankheitsrelevanten oder krankheitsauslösenden großen Deletionen und/oder Duplikationen

subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number (use: usual, ))

quantity: 6

Request:

PUT ChargeItem/mii-exa-molgen-chargeitem-ebm-22

Entry 13 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-chargeitem-ebm-23

Resource ChargeItem:

status: Billable

code: Zuschlag für Gemeinkosten und die wissenschaftliche ärztliche Beurteilung und Befundung komplexer genetischer Analysen im individuellen klinischen Kontext bei seltenen Erkrankungen

subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number (use: usual, ))

quantity: 1

Request:

PUT ChargeItem/mii-exa-molgen-chargeitem-ebm-23

Entry 14 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-chargeitem-ebm-24

Resource ChargeItem:

status: Billable

code: Grundpauschale humangenetische in-vitro-Diagnostik bei Probeneinsendung

subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number (use: usual, ))

quantity: 1

Request:

PUT ChargeItem/mii-exa-molgen-chargeitem-ebm-24

Entry 15 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-specimen-2

Resource Specimen:

identifier: https://www.charite.de/fhir/sid/bioproben/specimen_02

status: Available

type: Blood specimen with edetic acid (specimen)

subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number (use: usual, ))

receivedTime: 2021-11-24

Collections

-Collected[x]
*2021-11-23

Request:

PUT Specimen/mii-exa-molgen-specimen-2

Entry 16 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-device-sequencer-2

Resource Device:

Language: en

status: Active

manufacturer: Illumina

Request:

PUT Device/mii-exa-molgen-device-sequencer-2

Entry 17 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-diagnostische-implikation-2

Resource Observation:

Language: en

Profiles: MII PR MolGen Diagnostische Implikation version: 2027.0.0-ballot.1, Diagnostic Implication version: 3.0.0

Related artifact: No display for RelatedArtifact (type: citation; citation: Richards et al., Genet Med. 2015; 17:405-24; document: )

status: Final

category: Laboratory, Genetics

code: Diagnostic Implication

subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number (use: usual, ))

effective: 2022-03-16

performer: Practitioner Dr. Daniel Schmidt(official)

derivedFrom: Observation Genetic variant assessment

component

code: Conclusion Text

value: Nachweis einer pathogenen Variante im NIPBL-Gen in heterozygoter Form.

component

code: Genetic variation clinical significance [Imp]

value: Pathogenic

component

code: Condition Inheritance

value: Autosomal dominant inheritance

component

code: Associated phenotype

value: De Lange syndrome (disorder)

Request:

PUT Observation/mii-exa-molgen-diagnostische-implikation-2

Entry 18 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-variante-2

Resource Observation:

Language: en

Profiles: MII PR MolGen Variante version: 2027.0.0-ballot.1, Variant version: 3.0.0

basedOn: ServiceRequest Molecular genetic test (procedure)

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number (use: usual, ))

effective: 2022-03-16

value: Present

method: Sequencing

specimen: Specimen: identifier = https://www.charite.de/fhir/sid/bioproben#specimen_02; status = available; type = Blood specimen with edetic acid (specimen); receivedTime = 2021-11-24

device: Device: status = active; manufacturer = Illumina

component

code: Gene studied [ID]

value: NIPBL

component

code: Transcript reference sequence [ID]

value: NM_133433.4

component

code: DNA region name [Identifier]

value: Exon #10

component

code: DNA change (c.HGVS)

value: NM_133433.4:c.2207del

component

code: Amino acid change (pHGVS)

value: p.(Pro736Glnfs*58)

component

code: Allelic state

value: Heterozygous

component

code: DNA change type

value: Deletion

component

code: Cytogenetic (chromosome) location

value: 5p13.2

component

code: Discrete genetic variant

value: 1076298

Request:

PUT Observation/mii-exa-molgen-variante-2